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NBME 20 Answers

nbme20/Block 1/Question#33 (53.8 difficulty score)
A 17-year-old girl comes to the emergency ...

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submitted by queenofhearts(14),

The most likely mode of inheritance of the disorder in this patient can be found by using the inheritance algorithm:

  • Does offspring with disease have a parent with disease? (Y/ N)

    • if YES dominant (does not skip generations)

      • is there male-to-male transmission of disease? (Y/ N)

        • if YES autosomal dominant

        • if NO: do daughters of affected male have disease? (Y/ N)

          • if YES X-linked dominant

          • if NO Mitochondrial

utap2001  Very detailed! Just look for the affected father could determine many. AD, XD and mitochondria. +  

submitted by strugglebus(172),
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K,O os if I ermember ycreclrto iths is eht eon atth woshs eht teicneairhn .tnparet lromoctnhiida si lsoa ssaepd by het ;terhom rh,eovwe ti can heav eiaalrvb vtesisxrypei dan coetmpneil eeeantcpr,n whihc si wyh omse embmsre eewr tno .edfafetc

hyoscyamine  Also, question said there was a deficiency in NADH dehydrogenase activity which is another fancy way of saying complex I in the mitochondria. +14  
yotsubato  That unaffected male really threw me off... : ( +23  
charcot_bouchard  It was pure MELAS description. the unaffected male threw me off +3  
mbourne  I think the affected male on the right side is actually a helpful hint. Mitochondrial conditions can be inherited by males or females, but are only passed on through the females. +1  

submitted by h0odtime(47),
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Setrveiy fo irhnotlicodam iesdases si iertlcyd drleate ot hte rroonptipo fo nmoaabrl ot lornam tinmdhciaroo ihtiwn pianett .lcesl

msHetaelropy giavnh ffieerdnt mirociahodtnl mnesgoe in a iengls llc.e

myoalHpoms ni ocs,tnrta si enes ni thyhela stiuse wrhee roicnmithodla AND is dtc.ealnii

lWodUr lotneinpxaa ID 1539. roF sohet isuallyv nie.ldnci

submitted by dickass(103),
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toG isth noe wgonr eubseac of esoth 2 nfdaeutefc hirdlen.c rees'H eth onatpnaielx rmfo FA gp :95

htrndooMiicla ihetnearicn - matdtnsrTei lyon uhhgotr eth e.mothr lAl ipsgfrnof fo dcteeffa alseefm amy show sgnis fo sei.sade

laaViebr spnxeiesro in a npuolopait or neve iinthw a iflyam deu to yperaehltsom.

pearolHtmeys llbcaisay smaen atth eptmillu onmocrhiaitd rae dttsminetra to chea fpfn.osrgi ierhT raiot mya eghnac at haec ieanngteo,r adn auecs rmeo ereesv ro ssle eeesvr ea,ediss enev iwnthi hte amse ailfym.

oehsT cdafteufen eudsd lekduc otu.

dickass  That'll teach me not to skim FA, you really gotta look up the words you don't know. +1  
chandlerbas  heteroplasmy is a fancy way of saying variable expressivity just specific to mitochondrial diseases i do declare +  

submitted by md_caffeiner(65),
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Eyas FA exaplationn orf nidgo ochit.m sq:' roetMsh have eeidsdsa l eetan;dricFrshh don't

tnDo efortg this c.ritk